Natural History Study of Batten Disease

Terminated

• Conditions: Neuronal Ceroid Lipofuscinosis CLN6; Neuronal Ceroid Lipofuscinosis CLN3; Batten Disease

• Registration Number: NCT04644549
• Lead Sponsor: Amicus Therapeutics

Brief Summary

This is a multicenter, international, study to assess the natural history data from people with Batten disease by collecting both retrospective and prospective information about the motor, behavioral and functional capabilities of patients. The study initially has 2 cohorts. Cohort 1 (n ≈ 75) includes subjects with CLN6 Batten disease. Cohort 2 (n ≈ 120) includes subjects with juvenile CLN3 Batten disease. Additional cohorts for other Batten disease subtypes may be added in the future.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-10-27
• Study First Submitted QC: 2020-11-19
• Study First Posted: 2020-11-25
• Study Start: 2021-04-27
• Primary Completion: 2022-03-11
• Study Completion: 2022-03-11
• Status Verified: 2022-04
• Last Update Submitted: 2022-04-01
• Last Update Posted: 2022-04-11

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

• Subject has or had a diagnosis of CLN6 or CLN3 Batten disease that has been confirmed by genotyping (documented presence of a variant on both gene alleles). Confirmation of genotyping will be performed prior to enrollment.
• Subject (or legally authorized representative) has provided written informed consent (or assent) and authorization for use and disclosure of personal health information or research related health information
• Subjects may enroll starting from birth

Exclusion Criteria

• Subject has or had experienced another illness that is known to cause cognitive decline (eg, trauma, meningitis, hemorrhage)
• Subject received or receives an investigational gene therapy

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Assess the change over time in rating as determined using the Unified Batten Disease Rating Scale (UBDRS).	10 years	The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities.
Assess the change over time in rating as determined using the Hamburg Scale.	10 years	The Hamburg scale is an established tool to capture the rate of decline or regression.
Assess the change over time in cognitive function using Mullen Scales of Early Learning (for children up to 60 months old).	10 years
Assess the change over time in cognitive function using WPPSI-IV (for children up to 7 years 7 months old).	10 years
Assess the change over time in cognitive function using WISC-V (for patients older than 6 years old).	10 years
Characterize the age of onset of disease, including the timing of both the loss of capacities and the emergence of disease-related signs and symptoms	10 years

Trial Locations

Locations (1)

University of Rochester Medical Center; 🇺🇸 Rochester, New York, United States